Associated Papers
Mutation Screening of the GLE1 Gene in a Large Chinese Cohort of Amyotrophic Lateral Sclerosis Patients.
Li Y et al.
Frontiers in Neuroscience, 2021
The coming-of-age of nucleocytoplasmic transport in motor neuron disease and neurodegeneration.
Ferreira PA
Cellular and Molecular Life Sciences : Cmls, 2019
Structural and functional analysis of mRNA export regulation by the nuclear pore complex.
Lin DH et al.
Nature Communications, 2018
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.
Paakkola T et al.
Clinical Genetics, 2018
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis.
Tan QK et al.
Cold Spring Harbor Molecular Case Studies, 2017
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Said E et al.
American Journal of Medical Genetics. Part A, 2017
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Smith C et al.
Clinical Genetics, 2017
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis.
Folkmann AW et al.
Advances in Biological Regulation, 2014
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nousiainen HO et al.
Nature Genetics, 2008
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